Clinical Review

Managing the care of adults with Down’s syndrome

BMJ 2014; 349 doi: https://doi.org/10.1136/bmj.g5596 (Published 30 September 2014) Cite this as: BMJ 2014;349:g5596
  1. Kristin M Jensen, assistant professor1,
  2. Peter D Bulova, associate professor2
  1. 1Departments of Pediatrics and Internal Medicine, University of Colorado School of Medicine, Aurora, CO 80045, USA
  2. 2Department of Internal Medicine, University of Pittsburgh Medical Center, UPMC Montefiore Hospital, Pittsburgh, PA, USA
  1. Correspondence to: kristin.jensen{at}ucdenver.edu

Summary points

  • People with Down’s syndrome have experienced a dramatic increase in life expectancy, which is now in their mid-50s

  • The approach to primary care for adults with Down’s syndrome is similar to that for the general adult population, with the addition of screening for conditions specific to Down’s syndrome

  • Practitioners must be vigilant for conditions that are more common in Down’s syndrome than in the general population, such as hypothyroidism, obstructive sleep apnea, and osteoporosis

  • Adults with Down’s syndrome have a lower risk of hypertension, coronary artery disease, and solid tumors than the general population

  • People with Down’s syndrome have an increased risk of Alzheimer’s dementia, but not all adults experience this; the onset of dementia is not typically seen before age 40. By age 60, 40-77% of adults will have Alzheimer’s dementia

  • Respiratory infection is the leading cause of death in adults with Down’s syndrome

Sources and selection criteria

We based this narrative review on articles found by searching PubMed and the Cochrane Database of Systematic Reviews. We then applied snowball techniques to sources for the articles identified from both databases. Search terms first included “Down syndrome”, “preventive health care”, “epidemiology”, and “adults with Down syndrome”. We then searched specifically for articles dealing with comorbidities identified within that search. To date, few randomized controlled trials have involved adults with Down’s syndrome, and many studies that do exist used small sample sizes. We referenced many of these studies to ensure that our review was thorough and accurate. The information contained in this review results primarily from literature arising from observational studies and expert consensus, unless noted otherwise.

Down’s syndrome results from increased genetic material on all or a portion of chromosome 21 and is characterized by intellectual disability and risk for comorbidities involving multiple organ systems.1 2 3 The survival of people with Down’s …

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